Disabilities

Cri du chat syndrome.

An Overview of the Disability:

Cri du chat syndrome, also called deletion 5p syndrome, 5p minus or Le Jeune's syndrome, is a rare genetic disorder due to a missing portion of chromosome 5. It was first described by JÐ"©rÐ"Ò'me Lejeune in 1963. The condition affects an estimated 1 in 20,000 to 50,000 live births. The disorder is found in people of all ethnic backgrounds and is slightly more common in females.

The Cause/s:

It is caused by a missing part of the fifth chromosome.

Symptoms:

The syndrome gets its name from the characteristic cry of infants born with the disorder. The infant sounds just like a meowing kitten, due to problems with the larynx and nervous system. This cry identifies the syndrome. About 1/3 of children lose the cry by age 2. Other symptoms of cri-du-chat syndrome may include:

feeding problems because of difficulty swallowing and sucking,

low birth weight and poor growth,

severe cognitive, speech, and motor delays,

behavioural problems such as hyperactivity, aggression, tantrums, and repetitive movements,

unusual facial features which may change over time.

How is it diagnosed:

Diagnosis is based on the distinctive cry and accompanying physical problems. Genetic testing can confirm the diagnosis. Molecular cytogenetic studies using fluorescent in situ hybridization (FISH) allow the diagnosis to be made in patients with very small deletions. FISH uses genetic markers that have been precisely localized to the area of interest. The absence of a fluorescent signal from either the maternal or paternal chromosome 5p regions is indicative of monosomy for that chromosomal region. Genetic counselling and genetic testing may be offered to families with cri du chat syndrome.

Treatments:

No specific treatment is available for this syndrome.

Multiple sclerosis

An Overview Of the Disability:

Multiple sclerosis (abbreviated MS, also known as disseminated sclerosis or encephalomyelitis disseminata) is a chronic, inflammatory, demyelinating disease that affects the central nervous system (CNS). It is both a Physical and Neurological Disablity.

The Cause/s:

Although many risk factors for multiple sclerosis have been identified, no definitive cause has been found. MS likely occurs as a result of some combination of both environmental and genetic factors.

Symptoms:

MS can cause a variety of symptoms, including changes in sensation, muscle weakness, abnormal muscle spasms, or difficulty in moving; difficulties with coordination and balance; problems in speech or swallowing, visual problems, fatigue and acute or chronic pain syndromes, bladder and bowel difficulties, cognitive impairment, or emotional symptomatology.

How is it diagnosed:

Multiple sclerosis is difficult to diagnose in its early stages. In fact, definite diagnosis of MS cannot be made until there is evidence of at least two anatomically separate demyelinating events occurring at least thirty days apart. Clinical data alone may be sufficient for a diagnosis of MS. If an individual has suffered two separate episodes of neurologic symptoms characteristic of MS, and the individual also has consistent abnormalities on physical examination, a diagnosis of MS can be made with no further testing.

Magnetic resonance imaging (MRI) of the brain and spine is often used to evaluate individuals with suspected MS. The brain of a person with MS often responds less actively to stimulation of the optic nerve and sensory nerves. These brain responses can be examined using visual evoked potentials (VEPs) and somatosensory evoked potentials (SEPs). Decreased activity on either test can reveal demyelination.The signs and symptoms of MS can be similar to other medical problems, such as neuromyelitis optica, stroke, brain inflammation, infections such as Lyme disease.

Treatments:

There is no known definitive cure for multiple sclerosis. However, several types of therapy have proven to be helpful. Different therapies are used for patients experiencing acute attacks, for patients who have the relapsing-remitting subtype, for patients who have the progressive subtypes, for patients without a diagnosis of MS who have a demyelinating event, and for managing the various consequences of MS attacks. Treatment is aimed at returning function after an attack, preventing new attacks, and preventing disability.

Any Facts

In northern Europe, continental North America, and Australasia, about one of every 1000 citizens suffers from multiple sclerosis, whereas in the Arabian peninsula, Asia, and continental South America, the frequency is much lower. In sub-Saharan Africa, MS is extremely rare. With important exceptions, there is a north-to-south gradient in the northern hemisphere and a south-to-north gradient in the southern hemisphere, with MS being much less common in people living near the equator.MS occurs mainly in Caucasians. It is twentyfold lower in the Inuit people of Canada than in other Canadians living in the same region. It is also rare in the Native American tribes of North America, Australian Aborigines and the Maori of New Zealand. Scotland appears to have the highest rate of MS in the world.

Dyscalculia

An Overview Of the Disability:

Dyscalculia is a lesser-known learning disability that affects mathematical calculations. It is derived from the generic name - mathematics difficulty. Basically the mathematical form of Dyslexia.

The Cause/s:

Dyscalculia has several underlying causes.